Incidental Mutation 'IGL02889:Fpgs'
ID363129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fpgs
Ensembl Gene ENSMUSG00000009566
Gene Namefolylpolyglutamyl synthetase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL02889
Quality Score
Status
Chromosome2
Chromosomal Location32682609-32704145 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 32685879 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009705] [ENSMUST00000028148] [ENSMUST00000113272] [ENSMUST00000127812] [ENSMUST00000146498] [ENSMUST00000167841]
Predicted Effect probably benign
Transcript: ENSMUST00000009705
SMART Domains Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 336 346 N/A INTRINSIC
ZP 362 569 1.29e-2 SMART
transmembrane domain 587 609 N/A INTRINSIC
low complexity region 619 634 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000028148
SMART Domains Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1jbwa2 43 327 1e-59 SMART
PDB:1O5Z|A 99 389 2e-37 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000113272
SMART Domains Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 335 345 N/A INTRINSIC
ZP 361 568 1.29e-2 SMART
transmembrane domain 586 608 N/A INTRINSIC
low complexity region 618 633 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123171
Predicted Effect probably benign
Transcript: ENSMUST00000127812
SMART Domains Protein: ENSMUSP00000116434
Gene: ENSMUSG00000009566

DomainStartEndE-ValueType
SCOP:d1jbwa2 40 243 3e-48 SMART
PDB:1O5Z|A 56 243 4e-30 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142186
Predicted Effect probably benign
Transcript: ENSMUST00000146498
SMART Domains Protein: ENSMUSP00000141899
Gene: ENSMUSG00000009566

DomainStartEndE-ValueType
SCOP:d1jbwa2 40 126 2e-14 SMART
low complexity region 136 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156306
SMART Domains Protein: ENSMUSP00000122186
Gene: ENSMUSG00000026814

DomainStartEndE-ValueType
low complexity region 26 36 N/A INTRINSIC
ZP 52 283 1.23e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156792
Predicted Effect probably benign
Transcript: ENSMUST00000167841
SMART Domains Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 336 346 N/A INTRINSIC
ZP 362 569 1.29e-2 SMART
transmembrane domain 587 609 N/A INTRINSIC
low complexity region 616 625 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185043
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik C T 10: 82,283,820 S482N probably damaging Het
Adarb1 C T 10: 77,313,541 V371I probably benign Het
Amdhd2 A G 17: 24,157,787 L308P probably damaging Het
Antxr2 G T 5: 97,977,650 H249Q probably benign Het
Arg1 A T 10: 24,915,755 M276K probably damaging Het
Bloc1s6 T C 2: 122,742,684 Y60H probably damaging Het
Btnl9 A T 11: 49,178,777 V225E probably damaging Het
Ccdc129 A T 6: 55,901,458 D402V possibly damaging Het
Col1a1 T C 11: 94,951,509 Y1418H unknown Het
Dhx57 A T 17: 80,247,152 I1162K possibly damaging Het
Dmgdh T C 13: 93,715,677 probably null Het
Ear10 A G 14: 43,923,269 F34L probably damaging Het
Fli1 A G 9: 32,465,696 I92T probably damaging Het
Glp1r T A 17: 30,931,144 probably benign Het
Gm648 C A X: 56,547,191 K19N probably damaging Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Ifitm3 C T 7: 141,009,879 R87Q probably damaging Het
Ints3 G T 3: 90,392,836 H925N probably damaging Het
Itgb4 T A 11: 115,988,905 C628S probably damaging Het
Kcnh3 A T 15: 99,227,110 E147V probably null Het
Krtap19-4 T C 16: 88,885,056 Y4C unknown Het
Lrp2 A T 2: 69,552,450 S30R possibly damaging Het
Olfr743 A G 14: 50,533,513 I34V probably benign Het
Olfr971 A G 9: 39,840,237 M268V probably benign Het
Prima1 A G 12: 103,197,316 V132A probably benign Het
Psme1 A G 14: 55,579,926 probably benign Het
Rab11fip3 C A 17: 26,067,679 R500L possibly damaging Het
Rnf40 C A 7: 127,591,429 S255* probably null Het
Sebox T C 11: 78,504,330 V166A probably benign Het
Spata24 C A 18: 35,656,752 R194L probably benign Het
Tbx4 T A 11: 85,899,795 Y154* probably null Het
Trim24 G A 6: 37,957,761 E768K probably benign Het
Ttn A G 2: 76,731,960 V28847A possibly damaging Het
Utp6 T A 11: 79,949,070 Q264L possibly damaging Het
Vim A G 2: 13,580,680 R424G probably damaging Het
Vmn1r216 A C 13: 23,099,479 T111P probably damaging Het
Wnt11 G A 7: 98,850,359 A244T probably damaging Het
Zbtb26 A C 2: 37,436,249 N247K probably benign Het
Zfp629 T G 7: 127,610,031 probably benign Het
Other mutations in Fpgs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Fpgs APN 2 32686547 unclassified probably benign
IGL00493:Fpgs APN 2 32687997 missense possibly damaging 0.49
IGL02397:Fpgs APN 2 32685789 missense probably damaging 1.00
IGL02867:Fpgs APN 2 32685879 unclassified probably benign
IGL03082:Fpgs APN 2 32685757 nonsense probably null
IGL03126:Fpgs APN 2 32683123 missense possibly damaging 0.86
R0243:Fpgs UTSW 2 32692494 nonsense probably null
R0312:Fpgs UTSW 2 32684801 missense probably damaging 0.99
R1326:Fpgs UTSW 2 32692580 unclassified probably null
R1558:Fpgs UTSW 2 32685840 missense possibly damaging 0.77
R1624:Fpgs UTSW 2 32691188 critical splice donor site probably null
R1934:Fpgs UTSW 2 32687981 missense probably damaging 1.00
R3706:Fpgs UTSW 2 32687996 missense probably damaging 1.00
R4439:Fpgs UTSW 2 32687501 missense probably damaging 1.00
R4440:Fpgs UTSW 2 32687501 missense probably damaging 1.00
R4868:Fpgs UTSW 2 32692661 missense probably damaging 1.00
R4979:Fpgs UTSW 2 32687367 unclassified probably benign
R5279:Fpgs UTSW 2 32692767 intron probably benign
R6337:Fpgs UTSW 2 32687941 nonsense probably null
R6648:Fpgs UTSW 2 32684787 nonsense probably null
R6668:Fpgs UTSW 2 32687606 missense probably benign 0.05
R6768:Fpgs UTSW 2 32686623 missense probably benign 0.01
R7134:Fpgs UTSW 2 32686629 missense probably benign 0.25
R7360:Fpgs UTSW 2 32693993 missense possibly damaging 0.91
R7868:Fpgs UTSW 2 32683460 missense probably damaging 1.00
R7951:Fpgs UTSW 2 32683460 missense probably damaging 1.00
Posted On2015-12-18